C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) A01K 67/027 (2006.01) A61K 38/17 (2006.01) A61P 35/00 (2006.01) C07K 16/18 (2006.01) C12N 9/02 (2006.01) C12N 15/53 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2381066
Described are general means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the hPXR gene. In particular, polynucleotides of molecular variant hPXR gene which, for example, are associated with insufficient metabolization and/or sensitivity of drugs, and vectors comprising such polynucleotides are provided. Furthermore, host cells comprising such polynucleotides or vectors and their use for the production of variant hPXR proteins are described. In addition, variant hPXR proteins and antibodies specifically recognizing such proteins as well as transgenic non-human animals comprising the above-described polynucleotide or vectors are provided. Described are also methods for identifying and obtaining inhibitors for therapy of disorders related to the malfunction of the hPXR gene as well as methods of diagnosing the status of such disorders. Pharmaceutical and diagnostic compositions comprising the above-described polynucleotides, vectors, proteins, antibodies and inhibitors by the above- described method are provided. Said compositions are particularly useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of the hPXR gene product.
L'invention concerne des moyens et des procédés généraux de diagnostic et de traitement du spectre phénotypique et des caractéristiques cliniques coïncidant avec plusieurs formes d'expression et/ou de fonction anormale(s) héritée(s) du gène hPXR. L'invention concerne en particulier des polynucléotides d'un variant génétique moléculaire de hPXR qui, par exemple, sont associés à une métabolisation insuffisante de médicaments et/ou à une sensibilité insuffisante aux médicaments, et des vecteurs contenant ces polynucléotides. L'invention concerne de plus des cellules hôtes contenant ces polynucléotides ou ces vecteurs, et leur utilisation pour la production de variants de protéines de hPXR; des variants de protéines de hPXR et des anticorps reconnaissant spécifiquement ces protéines, ainsi que des animaux transgéniques non humains contenant lesdits polynucléotides ou vecteurs; des procédés permettant d'identifier et d'obtenir des inhibiteurs utiles pour traiter des affections liées à un dysfonctionnement du gène hPXR, ainsi que des méthodes permettant de diagnostiquer ces affections; des compositions pharmaceutiques et diagnostiques contenant lesdits polynucléotides, vecteurs, protéines, anticorps et inhibiteurs obtenus par ledit procédé. Lesdites compositions sont particulièrement utiles pour diagnostiquer et traiter diverses maladies au moyen de médicaments qui sont des substrats, des inhibiteurs ou des modulateurs du produit génique hPXR.
Hustert Elisabeth
Wojnowski Leszek
Epidauros Biotechnologie Ag
Goudreau Gage Dubuc
LandOfFree
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